Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty

Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion

“…To the best of our knowledge, of the UPD 14 cases in liveborns reported to date in the literature, 37 were mat (Antonarakis et al 1993;Papenhausen et al 1995;Barton et al 1996;Tomkins et al 1996;Splitt and Goodship 1997;Harrison et al 1998;Miyoshi et al 1998;Hordijk et al 1999;Martin et al 1999;Ralph et al 1999;Ginsburg et al 2000;Manzoni et al 2000;Sanlaville et al 2000;Eggermann et al 2001;Katahira et al 2002;Cox et al 2004) and 8 pat (Wang et al 1991;Papenhausen et al 1995;Walter et al 1996;Cotter et al 1997;McGowan et al 2002;Coveler et al 2002;Kurosawa et al 2002;Offiah et al 2003). As mentioned above, most cases of pat UPD 14 have characteristic and often serious clinical features, including blepharophimosis, small thorax, and joint contractures, while the main features of mat UPD 14 are low birth weight, poor postnatal growth, fleshy nasal tip, and scoliosis.…”

Long-Acting Gonadotropin-Releasing Hormone Analogue Treatment for Central Precocious Puberty in Maternal Uniparental Disomy Chromosome 14

“…While delayed puberty or hypogonadism is frequently recognized in PWS, premature puberty is a main finding in matUDP14. The causative mechanism of CPP complicating matUDP14 is unknown, but expected to be related to some imprinted gene in chromosome 14 (Tomkins et al 1996;Fokstuen et al 1999). We herein report a girl with matUPD(14) who was treated for CPP with long-acting GnRH analogue.…”

“…Uniparental disomy (UPD) is the inheritance of a chromosome pair from one parent and is increasingly recognized as a cause of abnormal phenotypes either due to imprinted genes or, in the case of isodisomy, to homozygosity of recessive alleles. Maternal uniparental disomy chromosome 14, designated as matUPD (14), is a genetic cause of disease with a recognizable phenotype including a number of consistent features, intrauterine growth retardation, CPP, short stature, hypotonia, developmental delay, scoliosis, and characteristic facies consisting of a high, broad forehead, and fleshy nasal tip (Temple et al 1991;Antonarakis et al 1993;Healey et al 1994;Tomkins et al 1996;Fokstuen et al 1999;Falk et al 2005). This disease should be considered in the differential diagnosis of Prader-Willi syndrome (PWS), because these syndromes have clinical overlap with each other (Berends et al 1999;Hordijk et al 1999).…”

Uniparental Disomy and Genome Imprinting: an Overview

“…As shown in Figures 3 and 4, balanced chromosome translocations (reciprocal and Robertsonian) are often subject to irregular segregation (3:1 for reciprocal and 2:1 for Robertsonian centric fusion), and may often serve as the raw material for mitotic trisomy rescue and UPD formation [1,2,[46][47][48][49][50][51].…”

“…The data indicating that there are genomic imprinting disturbances for maternal UPD 14 are also strong, although growth was not adversely affected in a recent case. The major signs [11,38,46,50,51,81] include arrested hydrocephalus, short stature, small hands (and feet), delayed motor and/or mental development, precocious (or early) puberty and recurrent otitis media. The inconstant signs include hyperextensible joints, a short philtrum, a high narrow palate and scoliosis.…”